|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
4
|
|
pubmed:dateCreated |
1997-5-8
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|
pubmed:abstractText |
L1CAM is a member of the immunoglobulin gene superfamily of neural adhesion molecule. Abnormality of the L1CAM gene is associated with X-linked recessive form of congenital hydrocephalus (HSAS; hydrocephalus due to congenital stenosis of aqueduct of Sylvius) and some allelic disorders. Four new patients with congenital hydrocephalus consistent with the X-linked type were described. One of them had a novel mutation in the L1CAM gene.
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pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Dec
|
|
pubmed:issn |
0916-8478
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|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
41
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
431-7
|
|
pubmed:dateRevised |
2010-11-18
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|
pubmed:meshHeading |
pubmed-meshheading:9088116-Child,
pubmed-meshheading:9088116-Child, Preschool,
pubmed-meshheading:9088116-DNA,
pubmed-meshheading:9088116-DNA Mutational Analysis,
pubmed-meshheading:9088116-Exons,
pubmed-meshheading:9088116-Frameshift Mutation,
pubmed-meshheading:9088116-Genetic Linkage,
pubmed-meshheading:9088116-Humans,
pubmed-meshheading:9088116-Hydrocephalus,
pubmed-meshheading:9088116-Japan,
pubmed-meshheading:9088116-Leukocyte L1 Antigen Complex,
pubmed-meshheading:9088116-Male,
pubmed-meshheading:9088116-Mutation,
pubmed-meshheading:9088116-Neural Cell Adhesion Molecules,
pubmed-meshheading:9088116-Pedigree,
pubmed-meshheading:9088116-Polymerase Chain Reaction,
pubmed-meshheading:9088116-Sequence Analysis, DNA,
pubmed-meshheading:9088116-X Chromosome
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|
pubmed:year |
1996
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|
pubmed:articleTitle |
A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus.
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|
pubmed:affiliation |
Department of Planning and Research, Osaka Medical Center, Japan.
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|
pubmed:publicationType |
Journal Article,
Case Reports
|
